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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Related Experiment Video

Updated: Dec 11, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

A Practical Guide for Structural Variation Detection in the Human Genome.

¹Ben May Department for Cancer Research, Department of Human Genetics, University of Chicago, Chicago, Illinois.

Current Protocols in Human Genetics

|August 20, 2020

Summary

This summary is machine-generated.

Identifying structural variations (SVs) is crucial for understanding genetic diseases. This review details high-throughput assays for SV discovery, offering practical guidance for researchers and discussing artifact identification.

Keywords:

chromothripsis genomic rearrangements next-generation sequencing single-molecule sequencing

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Area of Science:

Genomics and Bioinformatics
Molecular Biology
Human Genetics

Background:

Genetic variant profiling, including structural variations (SVs), is fundamental to biomedical research.
SVs are large-scale genomic alterations impacting gene expression, phenotypes, and diseases.
Accurate identification of SVs is critical for understanding human health and disease.

Purpose of the Study:

To review and compare high-throughput assays for structural variant (SV) discovery.
To provide a practical guide for selecting optimal SV detection strategies.
To discuss experimental and computational factors influencing SV identification and potential artifacts.

Main Methods:

Comprehensive review of existing high-throughput assays for SV detection.
Analysis of advantages and disadvantages of various SV discovery methods.
Discussion of experimental design considerations, including cost and performance.

Main Results:

Structural variations are challenging genetic alterations to detect accurately.
Different SV types (germline, somatic, complex) require tailored detection strategies.
Potential artifacts from sample handling, experiments, and analysis need careful consideration.

Conclusions:

Selecting appropriate high-throughput assays is essential for effective SV discovery.
A practical guide aids researchers in choosing the best strategies for different SV types.
Awareness and mitigation of SV artifacts improve the reliability of genomic research findings.